Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome

Recently, Khamaysi et al. described a postzygotic activating SMO mutation in a patient with “segmental basal cell naevus syndrome”, which the authors took as a mosaicform of Gorlin syndrome (MIM #109400).1 Here we want to argue that their patient did not suffer from a mosaicmanifestation of Gorlin syndrome but from Happle-Tinschert syndrome (HTS).2 In 2008 we delineated this distinct disorder characterized by segmentally arranged basaloid follicular hamartomas(BFHs) associated with osseous, dental and cerebral abnormalities.3 Meanwhile, several similar cases were published by dermatologists under the designation “Happle-Tinschert syndrome”.2 As discussed in detail in 2008, this complex mosaicphenotype often has been erroneously described under the ambiguous term “basal cell naevus syndrome”.3 This article is protected by copyright. All rights reserved.